Molecular genetics of human blue cone monochromacy

Jeremy Nathans, Carol M. Davenport, Irene H. Maumenee, Richard Alan Lewis, J. Fielding Hejtmancik, Michael Litt, Everett Lovrien, Richard Weleber, Brian Bachynski, Fred Zwas, Roger Klingaman, Gerald Fishman

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Abstract

Blue cone monochromacy is a rare X-linked disorder of color vision characterized by the absence of both red and green cone sensitivities. In 12 of 12 families carrying this trait, alterations are observed in the red and green visual pigment gene cluster. The alterations fall into two classes. One class arose from the wild type by a two-step pathway consisting of unequal homologous recombination and point mutation. The second class arose by nonhomologous deletion of genomic DNA adjacent to the red and green pigment gene cluster. These deletions define a 579-base pair region that is located 4 kilobases upstream of the red pigment gene and 43 kilobases upstream of the nearest green pigment gene; this 579-base pair region is essential for the activity of both pigment genes.

Original languageEnglish (US)
Pages (from-to)831-838
Number of pages8
JournalScience
Volume245
Issue number4920
DOIs
StatePublished - Jan 1 1989

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Cite this

Nathans, J., Davenport, C. M., Maumenee, I. H., Lewis, R. A., Hejtmancik, J. F., Litt, M., Lovrien, E., Weleber, R., Bachynski, B., Zwas, F., Klingaman, R., & Fishman, G. (1989). Molecular genetics of human blue cone monochromacy. Science, 245(4920), 831-838. https://doi.org/10.1126/science.2788922